Name: rs1805009
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1805009

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:89920138 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.011810 (3126/264690, TOPMED)
C=0.011206 (1570/140098, GnomAD)
C=0.00567 (446/78688, PAGE_STUDY) (+ 16 more)
C=0.01375 (678/49324, ALFA)
A=0.00004 (1/28258, 14KJPN)
C=0.0033 (21/6404, 1000G_30x)
C=0.0034 (17/5008, 1000G)
C=0.0033 (15/4480, Estonian)
C=0.0221 (85/3854, ALSPAC)
C=0.0221 (82/3708, TWINSUK)
C=0.011 (11/998, GoNL)
C=0.017 (10/600, NorthernSweden)
C=0.013 (7/534, MGP)
C=0.003 (1/304, FINRISK)
C=0.00 (0/100, Ancient Sardinia)
G=0.5 (1/2, SGDP_PRJ)
C=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MC1R : Missense Variant
TUBB3 : 2KB Upstream Variant
Publications: 15 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	49324	G=0.98625	C=0.01375
European	Sub	37288	G=0.98490	C=0.01510
African	Sub	3574	G=0.9964	C=0.0036
African Others	Sub	122	G=1.000	C=0.000
African American	Sub	3452	G=0.9962	C=0.0038
Asian	Sub	168	G=1.000	C=0.000
East Asian	Sub	112	G=1.000	C=0.000
Other Asian	Sub	56	G=1.00	C=0.00
Latin American 1	Sub	500	G=0.992	C=0.008
Latin American 2	Sub	628	G=0.994	C=0.006
South Asian	Sub	98	G=1.00	C=0.00
Other	Sub	7068	G=0.9867	C=0.0133

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.988190	C=0.011810
gnomAD - Genomes	Global	Study-wide	140098	G=0.988794	C=0.011206
gnomAD - Genomes	European	Sub	75888	G=0.98412	C=0.01588
gnomAD - Genomes	African	Sub	41962	G=0.99583	C=0.00417
gnomAD - Genomes	American	Sub	13650	G=0.98813	C=0.01187
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9988	C=0.0012
gnomAD - Genomes	East Asian	Sub	3126	G=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2150	G=0.9888	C=0.0112
The PAGE Study	Global	Study-wide	78688	G=0.99433	C=0.00567
The PAGE Study	AfricanAmerican	Sub	32510	G=0.99579	C=0.00421
The PAGE Study	Mexican	Sub	10806	G=0.99158	C=0.00842
The PAGE Study	Asian	Sub	8318	G=1.0000	C=0.0000
The PAGE Study	PuertoRican	Sub	7918	G=0.9879	C=0.0121
The PAGE Study	NativeHawaiian	Sub	4532	G=0.9980	C=0.0020
The PAGE Study	Cuban	Sub	4228	G=0.9879	C=0.0121
The PAGE Study	Dominican	Sub	3828	G=0.9966	C=0.0034
The PAGE Study	CentralAmerican	Sub	2450	G=0.9927	C=0.0073
The PAGE Study	SouthAmerican	Sub	1982	G=0.9909	C=0.0091
The PAGE Study	NativeAmerican	Sub	1260	G=0.9897	C=0.0103
The PAGE Study	SouthAsian	Sub	856	G=1.000	C=0.000
Allele Frequency Aggregator	Total	Global	49324	G=0.98625	C=0.01375
Allele Frequency Aggregator	European	Sub	37288	G=0.98490	C=0.01510
Allele Frequency Aggregator	Other	Sub	7068	G=0.9867	C=0.0133
Allele Frequency Aggregator	African	Sub	3574	G=0.9964	C=0.0036
Allele Frequency Aggregator	Latin American 2	Sub	628	G=0.994	C=0.006
Allele Frequency Aggregator	Latin American 1	Sub	500	G=0.992	C=0.008
Allele Frequency Aggregator	Asian	Sub	168	G=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	C=0.00
14KJPN	JAPANESE	Study-wide	28258	G=0.99996	A=0.00004
1000Genomes_30x	Global	Study-wide	6404	G=0.9967	C=0.0033
1000Genomes_30x	African	Sub	1786	G=0.9989	C=0.0011
1000Genomes_30x	Europe	Sub	1266	G=0.9921	C=0.0079
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	C=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	G=0.991	C=0.009
1000Genomes	Global	Study-wide	5008	G=0.9966	C=0.0034
1000Genomes	African	Sub	1322	G=0.9985	C=0.0015
1000Genomes	East Asian	Sub	1008	G=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	G=0.9920	C=0.0080
1000Genomes	South Asian	Sub	978	G=1.000	C=0.000
1000Genomes	American	Sub	694	G=0.990	C=0.010
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9967	C=0.0033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9779	C=0.0221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9779	C=0.0221
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.989	C=0.011
Northern Sweden	ACPOP	Study-wide	600	G=0.983	C=0.017
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.987	C=0.013
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.997	C=0.003
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	100	G=1.00	C=0.00
SGDP_PRJ	Global	Study-wide	2	G=0.5	C=0.5
Siberian	Global	Study-wide	2	G=0.5	C=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 16	NC_000016.10:g.89920138G>A
GRCh38.p14 chr 16	NC_000016.10:g.89920138G>C
GRCh37.p13 chr 16	NC_000016.9:g.89986546G>A
GRCh37.p13 chr 16	NC_000016.9:g.89986546G>C
TUBB3 RefSeqGene	NG_027810.1:g.3130G>A
TUBB3 RefSeqGene	NG_027810.1:g.3130G>C
MC1R RefSeqGene	NG_012026.1:g.7260G>A
MC1R RefSeqGene	NG_012026.1:g.7260G>C

Gene: TUBB3, tubulin beta 3 class III (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TUBB3 transcript variant 2	NM_001197181.2:c.	N/A	Upstream Transcript Variant
TUBB3 transcript variant 1	NM_006086.4:c.	N/A	N/A

Gene: MC1R, melanocortin 1 receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MC1R transcript	NM_002386.4:c.880G>A	D [GAC] > N [AAC]	Coding Sequence Variant
melanocyte-stimulating hormone receptor	NP_002377.4:p.Asp294Asn	D (Asp) > N (Asn)	Missense Variant
MC1R transcript	NM_002386.4:c.880G>C	D [GAC] > H [CAC]	Coding Sequence Variant
melanocyte-stimulating hormone receptor	NP_002377.4:p.Asp294His	D (Asp) > H (His)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 844621 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001067485.5	Melanoma, cutaneous malignant, susceptibility to, 5	Uncertain-Significance

Allele: C (allele ID: 29346 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000015377.26	Skin/hair/eye pigmentation 2, red hair/fair skin	Association
RCV000243405.1	not specified	Likely-Benign
RCV000347221.6	not provided	Benign
RCV000662303.1	Tyrosinase-positive oculocutaneous albinism	Likely-Pathogenic
RCV000851264.1	Skin and Hair Hypopigmentation	Likely-Pathogenic
RCV001080639.7	Melanoma, cutaneous malignant, susceptibility to, 5	Benign
RCV001195217.3	Melanoma	Risk-Factor

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C
GRCh38.p14 chr 16	NC_000016.10:g.89920138=	NC_000016.10:g.89920138G>A	NC_000016.10:g.89920138G>C
GRCh37.p13 chr 16	NC_000016.9:g.89986546=	NC_000016.9:g.89986546G>A	NC_000016.9:g.89986546G>C
TUBB3 RefSeqGene	NG_027810.1:g.3130=	NG_027810.1:g.3130G>A	NG_027810.1:g.3130G>C
MC1R RefSeqGene	NG_012026.1:g.7260=	NG_012026.1:g.7260G>A	NG_012026.1:g.7260G>C
MC1R transcript	NM_002386.4:c.880=	NM_002386.4:c.880G>A	NM_002386.4:c.880G>C
MC1R transcript	NM_002386.3:c.880=	NM_002386.3:c.880G>A	NM_002386.3:c.880G>C
melanocyte-stimulating hormone receptor	NP_002377.4:p.Asp294=	NP_002377.4:p.Asp294Asn	NP_002377.4:p.Asp294His

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

52 SubSNP, 21 Frequency, 8 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2425922	Nov 14, 2000 (89)
2	SNP500CANCER	ss105440256	Feb 06, 2009 (130)
3	OMICIA	ss244239406	May 27, 2010 (132)
4	OMIM-CURATED-RECORDS	ss275515486	Nov 24, 2010 (133)
5	1000GENOMES	ss464764753	Sep 17, 2011 (135)
6	EXOME_CHIP	ss491513815	May 04, 2012 (137)
7	CLINSEQ_SNP	ss491725601	May 04, 2012 (137)
8	NHLBI-ESP	ss713334896	Apr 25, 2013 (138)
9	EVA-GONL	ss992830737	Aug 21, 2014 (142)
10	1000GENOMES	ss1357561492	Aug 21, 2014 (142)
11	EVA_FINRISK	ss1584102418	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1635117263	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1678111296	Apr 01, 2015 (144)
14	EVA_EXAC	ss1692487669	Apr 01, 2015 (144)
15	EVA_EXAC	ss1692487670	Apr 01, 2015 (144)
16	EVA_DECODE	ss1696872320	Apr 01, 2015 (144)
17	EVA_MGP	ss1711441363	Apr 01, 2015 (144)
18	ILLUMINA	ss1959711655	Feb 12, 2016 (147)
19	JJLAB	ss2028926303	Sep 14, 2016 (149)
20	USC_VALOUEV	ss2157367883	Dec 20, 2016 (150)
21	HUMAN_LONGEVITY	ss2214824269	Dec 20, 2016 (150)
22	GNOMAD	ss2742271554	Nov 08, 2017 (151)
23	GNOMAD	ss2749635887	Nov 08, 2017 (151)
24	GNOMAD	ss2946702320	Nov 08, 2017 (151)
25	AFFY	ss2985080468	Nov 08, 2017 (151)
26	SWEGEN	ss3015041409	Nov 08, 2017 (151)
27	ILLUMINA	ss3021742114	Nov 08, 2017 (151)
28	ILLUMINA	ss3652154517	Oct 12, 2018 (152)
29	ILLUMINA	ss3653852565	Oct 12, 2018 (152)
30	EGCUT_WGS	ss3682019210	Jul 13, 2019 (153)
31	EVA_DECODE	ss3699905765	Jul 13, 2019 (153)
32	ILLUMINA	ss3725591509	Jul 13, 2019 (153)
33	ACPOP	ss3741791966	Jul 13, 2019 (153)
34	PAGE_CC	ss3771903567	Jul 13, 2019 (153)
35	EVA	ss3825053946	Apr 27, 2020 (154)
36	EVA	ss3825887462	Apr 27, 2020 (154)
37	SGDP_PRJ	ss3885136866	Apr 27, 2020 (154)
38	NORTHRUP_AU	ss3983909061	Apr 27, 2021 (155)
39	EVA	ss3985776308	Apr 27, 2021 (155)
40	EVA	ss3986703919	Apr 27, 2021 (155)
41	TOPMED	ss5026622988	Apr 27, 2021 (155)
42	EVA	ss5237667457	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5302107383	Oct 16, 2022 (156)
44	EVA	ss5425824681	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5495328347	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5605329415	Oct 16, 2022 (156)
47	SANFORD_IMAGENETICS	ss5659545440	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5776520309	Oct 16, 2022 (156)
49	EVA	ss5846860277	Oct 16, 2022 (156)
50	EVA	ss5848435451	Oct 16, 2022 (156)
51	EVA	ss5900402921	Oct 16, 2022 (156)
52	EVA	ss5950960260	Oct 16, 2022 (156)
53	1000Genomes	NC_000016.9 - 89986546	Oct 12, 2018 (152)
54	1000Genomes_30x	NC_000016.10 - 89920138	Oct 16, 2022 (156)
55	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 89986546	Oct 12, 2018 (152)
56	Genetic variation in the Estonian population	NC_000016.9 - 89986546	Oct 12, 2018 (152)
57	ExAC Submission ignored due to conflicting rows: Row 2908142 (NC_000016.9:89986545:G:G 119484/120516, NC_000016.9:89986545:G:C 1032/120516) Row 2908143 (NC_000016.9:89986545:G:G 120515/120516, NC_000016.9:89986545:G:A 1/120516)	-	Oct 12, 2018 (152)
58	ExAC Submission ignored due to conflicting rows: Row 2908142 (NC_000016.9:89986545:G:G 119484/120516, NC_000016.9:89986545:G:C 1032/120516) Row 2908143 (NC_000016.9:89986545:G:G 120515/120516, NC_000016.9:89986545:G:A 1/120516)	-	Oct 12, 2018 (152)
59	FINRISK	NC_000016.9 - 89986546	Apr 27, 2020 (154)
60	gnomAD - Genomes	NC_000016.10 - 89920138	Apr 27, 2021 (155)
61	gnomAD - Exomes Submission ignored due to conflicting rows: Row 11564488 (NC_000016.9:89986545:G:G 249065/249066, NC_000016.9:89986545:G:A 1/249066) Row 11564489 (NC_000016.9:89986545:G:G 246803/249066, NC_000016.9:89986545:G:C 2263/249066)	-	Jul 13, 2019 (153)
62	gnomAD - Exomes Submission ignored due to conflicting rows: Row 11564488 (NC_000016.9:89986545:G:G 249065/249066, NC_000016.9:89986545:G:A 1/249066) Row 11564489 (NC_000016.9:89986545:G:G 246803/249066, NC_000016.9:89986545:G:C 2263/249066)	-	Jul 13, 2019 (153)
63	Genome of the Netherlands Release 5	NC_000016.9 - 89986546	Apr 27, 2020 (154)
64	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 89986546	Apr 27, 2020 (154)
65	Northern Sweden	NC_000016.9 - 89986546	Jul 13, 2019 (153)
66	The PAGE Study	NC_000016.10 - 89920138	Jul 13, 2019 (153)
67	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 89986546	Apr 27, 2021 (155)
68	SGDP_PRJ	NC_000016.9 - 89986546	Apr 27, 2020 (154)
69	Siberian	NC_000016.9 - 89986546	Apr 27, 2020 (154)
70	14KJPN	NC_000016.10 - 89920138	Oct 16, 2022 (156)
71	TopMed	NC_000016.10 - 89920138	Apr 27, 2021 (155)
72	UK 10K study - Twins	NC_000016.9 - 89986546	Oct 12, 2018 (152)
73	ALFA	NC_000016.10 - 89920138	Apr 27, 2021 (155)
74	ClinVar	RCV000015377.26	Oct 12, 2018 (152)
75	ClinVar	RCV000243405.1	Oct 12, 2018 (152)
76	ClinVar	RCV000347221.6	Oct 16, 2022 (156)
77	ClinVar	RCV000662303.1	Oct 12, 2018 (152)
78	ClinVar	RCV000851264.1	Apr 27, 2020 (154)
79	ClinVar	RCV001067485.5	Oct 16, 2022 (156)
80	ClinVar	RCV001080639.7	Oct 16, 2022 (156)
81	ClinVar	RCV001195217.3	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1692487670, ss2742271554	NC_000016.9:89986545:G:A	NC_000016.10:89920137:G:A	(self)
RCV001067485.5, 110357413, ss5776520309	NC_000016.10:89920137:G:A	NC_000016.10:89920137:G:A	(self)
ss491725601, ss1696872320	NC_000016.8:88514046:G:C	NC_000016.10:89920137:G:C	(self)
70762856, 39253532, 27757458, 98879, 17497984, 557123, 15076831, 1002235, 37153846, 9884237, 39253532, ss464764753, ss491513815, ss713334896, ss992830737, ss1357561492, ss1584102418, ss1635117263, ss1678111296, ss1692487669, ss1711441363, ss1959711655, ss2028926303, ss2157367883, ss2742271554, ss2749635887, ss2946702320, ss2985080468, ss3015041409, ss3021742114, ss3652154517, ss3653852565, ss3682019210, ss3741791966, ss3825053946, ss3825887462, ss3885136866, ss3983909061, ss3985776308, ss3986703919, ss5425824681, ss5659545440, ss5846860277, ss5848435451, ss5950960260	NC_000016.9:89986545:G:C	NC_000016.10:89920137:G:C	(self)
RCV000015377.26, RCV000243405.1, RCV000347221.6, RCV000662303.1, RCV000851264.1, RCV001080639.7, RCV001195217.3, 92855350, 498997560, 1125036, 242168649, 9714539919, ss244239406, ss275515486, ss2214824269, ss3699905765, ss3725591509, ss3771903567, ss5026622988, ss5237667457, ss5302107383, ss5495328347, ss5605329415, ss5900402921	NC_000016.10:89920137:G:C	NC_000016.10:89920137:G:C	(self)
ss2425922, ss105440256	NT_010542.15:1547162:G:C	NC_000016.10:89920137:G:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

15 citations for rs1805009

PMID	Title	Author	Year	Journal
7581459	Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.	Valverde P et al.	1995	Nature genetics
11179997	Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.	Box NF et al.	2001	The Journal of investigative dermatology
17616515	Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.	Beaumont KA et al.	2007	Human molecular genetics
17999355	A genomewide association study of skin pigmentation in a South Asian population.	Stokowski RP et al.	2007	American journal of human genetics
18366057	MC1R variants, melanoma and red hair color phenotype: a meta-analysis.	Raimondi S et al.	2008	International journal of cancer
19710684	Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.	Duffy DL et al.	2010	The Journal of investigative dermatology
20585627	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eriksson N et al.	2010	PLoS genetics
20670983	The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.	Strange RC et al.	2010	Multiple sclerosis (Houndmills, Basingstoke, England)
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
24809478	Implications of the admixture process in skin color molecular assessment.	Cerqueira CC et al.	2014	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
25945350	Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.	Pośpiech E et al.	2015	BioMed research international
26848990	Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma.	Fesenko DO et al.	2016	Genetic testing and molecular biomarkers
30657907	A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.	Zorina-Lichtenwalter K et al.	2019	Human molecular genetics
35176104	Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.	Rauf S et al.	2022	PloS one

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1805009